A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718429



Internal ID9952720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155648347..155763436hg38UCSC Ensembl
Outerchr1:155618138..155733227hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38115090
hg19115090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6756636, essv6749586, essv6764246, essv6745030, essv6666964, essv6750698, essv6965705, essv6759146, essv6808486, essv6761921, essv6874796, essv6747879, essv6753600, essv6733574, essv6933411, essv6914083, essv6742236
SamplesSSM059, SSM008, SSM002, SSM057, SSM058, SSM092, SSM021, SSM061, SSM062, SSM001, SSM016, SSM053, SSM055, SSM049, SSM056, SSM030, SSM063
Known GenesDAP3, GON4L, MSTO2P, YY1AP1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2718429
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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